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Ryan Jason Schmidt, MD, PhD

Assistant Professor of Clinical Pathology

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Email [email protected]
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Publications

  • PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas. Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140.. View in PubMed
  • Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. J Mol Med (Berl). 2021 11; 99(11):1623-1638.. View in PubMed
  • Developing dashboards for performance improvement in cytopathology. J Am Soc Cytopathol. 2021 Nov-Dec; 10(6):535-542.. View in PubMed
  • Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037.. View in PubMed
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies. Cancer Genet. 2021 06; 254.. View in PubMed
  • Precision Medicine Exits the Hype Cycle and Enters into Productive Clinical Use. Clin Lab Med. 2020 06; 40(2):ix-x.. View in PubMed
  • Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. J Vitreoretin Dis. 2020 Jan-Feb; 4(1):69-74.. View in PubMed
  • Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk. Genet Med. 2019 12; 21(12):2765-2773.. View in PubMed
  • VarGrouper: A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling. J Mol Diagn. 2019 05; 21(3):384-389.. View in PubMed
  • Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516.. View in PubMed

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